Varaico: Literature-Extracted Genetic Variants

Gene:GRXCR2
Variant:p.Y186*

GRXCR2

35 papers

RefSeq Summary

This gene encodes a protein containing a glutaredoxin domain, which functions in protein S-glutathionylation. A mutation in this gene was found in a family with autoosomal recessive nonsyndromic senso...

Pfam Domains

GRXCR1-2_Caa 197–247UCSCGRXCR1/2, C-terminal domain

Gene Aliases

HGNC Name

glutaredoxin and cysteine rich domain containing 2

HGNC Alias Symbol

DFNB101

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080516.2
p.Y186*
c.558T>G
Surrounding Variants
1 paper
NM_001080516.2
p.Y186*
c.558T>A
1 paper
NM_001080516.2
p.Y186H
c.556T>C
1 paper
NM_001080516.2
p.R185Q
c.554G>A
1 paper
NM_001080516.2
p.P182P
c.546C>T
3 papers
NM_001080516.2
p.L181F
c.543A>T
3 papers
NM_001080516.2
p.L181F
c.543A>C
1 paper
NM_001080516.2
p.A177T
c.529G>A
1 paper
NM_001080516.2
p.R172K
c.515G>A
1 paper
NM_001080516.2
p.H170H
c.510C>T
1 paper
NM_001080516.2
p.H170N
c.508C>A
1 paper
NM_001080516.2
p.E153*
c.457G>T
1 paper
NM_001080516.2
p.L146R
c.437T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."